A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601943



Internal ID6988978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118322644..118326020hg38UCSC Ensembl
Innerchr4:118322694..118325970hg38UCSC Ensembl
Outerchr4:118322529..118326135hg38UCSC Ensembl
chr4:119243799..119247175hg19UCSC Ensembl
Innerchr4:119243849..119247125hg19UCSC Ensembl
Outerchr4:119243684..119247290hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg383377
hg193377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11580349, essv11580356, essv11580354, essv11580353, essv11580355, essv11580348, essv11580352, essv11580357, essv11580350, essv11580359, essv11580347, essv11580358, essv11580351
SamplesHG00306, HG00369, HG00281, HG02642, HG01709, HG00365, HG01149, NA11919, HG00383, NA06986, HG00111, HG00329, HG00345
Known GenesPRSS12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601943
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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